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Hemorrhagic disorder due to a qualitative platelet defect

MedGen UID:
1842730
Concept ID:
C5679758
Disease or Syndrome
Synonyms: Rare bleeding disorder due to a constitutional thrombopathy; Rare bleeding disorder due to a qualitative platelet defect; Rare coagulopathy due to a constitutional thrombopathy; Rare coagulopathy due to a qualitative platelet defect; Rare hemorrhagic disorder due to a constitutional thrombopathy; Rare hemorrhagic disorder due to a qualitative platelet defect
 
Orphanet: ORPHA275736

Professional guidelines

PubMed

Weyand AC, Flood VH
Hematol Oncol Clin North Am 2021 Dec;35(6):1085-1101. Epub 2021 Aug 13 doi: 10.1016/j.hoc.2021.07.004. PMID: 34400042Free PMC Article
Castaman G, Goodeve A, Eikenboom J; European Group on von Willebrand Disease
Haematologica 2013 May;98(5):667-74. doi: 10.3324/haematol.2012.077263. PMID: 23633542Free PMC Article
Castaman G, Rodeghiero F
Expert Rev Hematol 2011 Feb;4(1):95-106. doi: 10.1586/ehm.11.1. PMID: 21322782

Recent clinical studies

Etiology

Pedini P, Baudey JB, Pouymayou K, Falaise C, Ibrahim-Kosta M, Vélier M, Demerle C, Graiet H, Dragutini C, Dombey AM, Chiaroni J, Alessi MC, Picard C
Transfusion 2022 Aug;62(8):1643-1651. Epub 2022 Jun 24 doi: 10.1111/trf.16990. PMID: 35748562Free PMC Article
James PD, Goodeve AC
Genet Med 2011 May;13(5):365-76. doi: 10.1097/GIM.0b013e3182035931. PMID: 21289515Free PMC Article
Franchini M, Veneri D, Salvagno GL, Manzato F, Lippi G
Crit Rev Clin Lab Sci 2006;43(3):249-90. doi: 10.1080/10408360600552678. PMID: 16574555
Amitrano L, Guardascione MA, Brancaccio V, Balzano A
Semin Liver Dis 2002 Feb;22(1):83-96. doi: 10.1055/s-2002-23205. PMID: 11928081
Blanchette VS, Sparling C, Turner C
Baillieres Clin Haematol 1991 Apr;4(2):291-332. doi: 10.1016/s0950-3536(05)80162-3. PMID: 1912663

Diagnosis

Weyand AC, Flood VH
Hematol Oncol Clin North Am 2021 Dec;35(6):1085-1101. Epub 2021 Aug 13 doi: 10.1016/j.hoc.2021.07.004. PMID: 34400042Free PMC Article
Botero JP, Lee K, Branchford BR, Bray PF, Freson K, Lambert MP, Luo M, Mohan S, Ross JE, Bergmeier W, Di Paola J; ClinGen Platelet Disorder Variant Curation Expert Panel
Haematologica 2020 Apr;105(4):888-894. Epub 2020 Mar 5 doi: 10.3324/haematol.2018.214239. PMID: 32139434Free PMC Article
Veyradier A, Boisseau P, Fressinaud E, Caron C, Ternisien C, Giraud M, Zawadzki C, Trossaert M, Itzhar-Baïkian N, Dreyfus M, d'Oiron R, Borel-Derlon A, Susen S, Bezieau S, Denis CV, Goudemand J; French Reference Center for von Willebrand disease
Medicine (Baltimore) 2016 Mar;95(11):e3038. doi: 10.1097/MD.0000000000003038. PMID: 26986123Free PMC Article
Nurden AT
Orphanet J Rare Dis 2006 Apr 6;1:10. doi: 10.1186/1750-1172-1-10. PMID: 16722529Free PMC Article
Amitrano L, Guardascione MA, Brancaccio V, Balzano A
Semin Liver Dis 2002 Feb;22(1):83-96. doi: 10.1055/s-2002-23205. PMID: 11928081

Therapy

Fouassier M, Babuty A, Debord C, Béné MC
Cytometry B Clin Cytom 2020 Nov;98(6):464-475. Epub 2020 Jun 9 doi: 10.1002/cyto.b.21892. PMID: 32516490
Poon MC, Di Minno G, d'Oiron R, Zotz R
Transfus Med Rev 2016 Apr;30(2):92-9. Epub 2016 Jan 30 doi: 10.1016/j.tmrv.2016.01.001. PMID: 26968829
Nurden AT
Orphanet J Rare Dis 2006 Apr 6;1:10. doi: 10.1186/1750-1172-1-10. PMID: 16722529Free PMC Article
Blanchette VS, Sparling C, Turner C
Baillieres Clin Haematol 1991 Apr;4(2):291-332. doi: 10.1016/s0950-3536(05)80162-3. PMID: 1912663
Zimmerman TS, Ruggeri ZM
Hum Pathol 1987 Feb;18(2):140-52. doi: 10.1016/s0046-8177(87)80332-5. PMID: 3100416

Prognosis

Galvez C, Stein BL
Curr Hematol Malig Rep 2020 Aug;15(4):261-267. doi: 10.1007/s11899-020-00588-z. PMID: 32399765
De Jong A, Eikenboom J
J Thromb Haemost 2016 Mar;14(3):449-60. Epub 2016 Feb 12 doi: 10.1111/jth.13243. PMID: 26714181
Schneppenheim R
Thromb Res 2011;128 Suppl 1:S3-7. doi: 10.1016/S0049-3848(12)70002-6. PMID: 22221847
Castaman G, Rodeghiero F
Expert Rev Hematol 2011 Feb;4(1):95-106. doi: 10.1586/ehm.11.1. PMID: 21322782
Nurden AT
Orphanet J Rare Dis 2006 Apr 6;1:10. doi: 10.1186/1750-1172-1-10. PMID: 16722529Free PMC Article

Clinical prediction guides

Pedini P, Baudey JB, Pouymayou K, Falaise C, Ibrahim-Kosta M, Vélier M, Demerle C, Graiet H, Dragutini C, Dombey AM, Chiaroni J, Alessi MC, Picard C
Transfusion 2022 Aug;62(8):1643-1651. Epub 2022 Jun 24 doi: 10.1111/trf.16990. PMID: 35748562Free PMC Article
Alharbi A, Hashmi JA, Alharby E, Albalawi AM, Ramzan K, Basit S
Hematol Oncol Stem Cell Ther 2022 Mar 1;15(1):21-26. doi: 10.1016/j.hemonc.2021.01.003. PMID: 33600779
De Jong A, Eikenboom J
J Thromb Haemost 2016 Mar;14(3):449-60. Epub 2016 Feb 12 doi: 10.1111/jth.13243. PMID: 26714181
Schneppenheim R
Thromb Res 2011;128 Suppl 1:S3-7. doi: 10.1016/S0049-3848(12)70002-6. PMID: 22221847
Castaman G, Rodeghiero F
Expert Rev Hematol 2011 Feb;4(1):95-106. doi: 10.1586/ehm.11.1. PMID: 21322782

Recent systematic reviews

Peitsidis P, Datta T, Pafilis I, Otomewo O, Tuddenham EG, Kadir RA
Haemophilia 2010 Jul 1;16(4):584-91. Epub 2010 Jan 12 doi: 10.1111/j.1365-2516.2009.02137.x. PMID: 20070385

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